(Q34207192)

31 July 2017

title

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency (English)

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31 July 2017

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Brage Storstein Andresen

2

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31 July 2017

5

Flemming Skovby

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author name string

Rikke K J Olsen

1

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31 July 2017

Ernst Christensen

3

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31 July 2017

Peter Bross

4

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31 July 2017

Niels Gregersen

6

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31 July 2017

language of work or name

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1 July 2003

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31 July 2017

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31 July 2017

volume

22

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31 July 2017

issue

1

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31 July 2017

page(s)

12-23

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Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: purification and molecular, redox, and catalytic properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Riboflavin-responsive defects of beta-oxidation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

mRNA quality control: Marking the message for life or death.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Electron-transferring flavoprotein has an AMP-binding site in addition to the FAD-binding site.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10226

1 reference

7 January 2021

Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Statistical features of human exons and their flanking regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10226

7 January 2021

Identifiers

DOI

10.1002/HUMU.10226

1 reference

31 July 2017

1 reference